메뉴 건너뛰기




Volumn 43, Issue 1, 2010, Pages 107-114

HFE gene mutations and iron status of Brazilian blood donors

Author keywords

Blood donors; Gene mutations; HFE; Iron status; TFR2

Indexed keywords

FERRITIN; HFE PROTEIN; IRON;

EID: 75649116831     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/s0100-879x2009007500031     Document Type: Article
Times cited : (15)

References (37)
  • 1
    • 33646899011 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Genetic complexity and new diagnostic approaches
    • Swinkels DW, Janssen MC, Bergmans J, Marx JJ. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin Chem 2006; 52: 950-968.
    • (2006) Clin Chem , vol.52 , pp. 950-968
    • Swinkels, D.W.1    Janssen, M.C.2    Bergmans, J.3    Marx, J.J.4
  • 2
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 1998; 95: 1472-1477.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3    Lee, V.K.4    Lebron, J.A.5    Watson, N.6
  • 4
    • 0036431779 scopus 로고    scopus 로고
    • Genetic haemochromatosis: Genes and mutations associated with iron loading
    • Camaschella C, Roetto A, De Gobbi M. Genetic haemochromatosis: genes and mutations associated with iron loading. Best Pract Res Clin Haematol 2002; 15: 261-276.
    • (2002) Best Pract Res Clin Haematol , vol.15 , pp. 261-276
    • Camaschella, C.1    Roetto, A.2    De Gobbi, M.3
  • 6
    • 0033066062 scopus 로고    scopus 로고
    • A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria
    • Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, et al. A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J Hepatol 1999; 30: 588-593.
    • (1999) J Hepatol , vol.30 , pp. 588-593
    • Brissot, P.1    Moirand, R.2    Jouanolle, A.M.3    Guyader, D.4    Le Gall, J.Y.5    Deugnier, Y.6
  • 9
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 10
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999; 93: 2502-2505.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 11
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997; 61: 762-764.
    • (1997) Am J Hum Genet , vol.61 , pp. 762-764
    • Beutler, E.1
  • 13
    • 0036683019 scopus 로고    scopus 로고
    • Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation
    • Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 2002; 100: 1075-1077.
    • (2002) Blood , vol.100 , pp. 1075-1077
    • Mattman, A.1    Huntsman, D.2    Lockitch, G.3    Langlois, S.4    Buskard, N.5    Ralston, D.6
  • 15
    • 34547167514 scopus 로고    scopus 로고
    • Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population
    • Bueno S, Duch CR, Figueiredo MS. Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population. Rev Bras Hematol Hemoter 2006; 28: 293-295.
    • (2006) Rev Bras Hematol Hemoter , vol.28 , pp. 293-295
    • Bueno, S.1    Duch, C.R.2    Figueiredo, M.S.3
  • 17
    • 75649139355 scopus 로고    scopus 로고
    • Accessed September 8, 2009
    • http://www.ibge.gov.br/home/estatistica/populacao/censo2000/. Accessed September 8, 2009.
  • 19
    • 43049159226 scopus 로고    scopus 로고
    • Distribution of the GNB3 825C>T polymorphism among Brazilians: Impact of population structure
    • Vargens DD, Almendra L, Struchiner CJ, Suarez-Kurtz G. Distribution of the GNB3 825C>T polymorphism among Brazilians: impact of population structure. Eur J Clin Pharmacol 2008; 64: 253-256.
    • (2008) Eur J Clin Pharmacol , vol.64 , pp. 253-256
    • Vargens, D.D.1    Almendra, L.2    Struchiner, C.J.3    Suarez-Kurtz, G.4
  • 20
    • 75649093582 scopus 로고    scopus 로고
    • Agência Nacional de Vigilância Sanitária do Brasil, 〉. Accessed September 8, 2009
    • Agência Nacional de Vigilância Sanitária do Brasil. RDC 153, de 14 de junho de 2004. 〈http://www.anvisa.gov.br/sangue/legis/ 〉. Accessed September 8, 2009.
    • RDC 153, de 14 de junho de 2004
  • 21
    • 0031873791 scopus 로고    scopus 로고
    • Optimized procedure for DNA isolation from fresh and cryo-preserved clotted human blood useful in clinical molecular testing
    • Salazar LA, Hirata MH, Cavalli SA, Machado MO, Hirata RD. Optimized procedure for DNA isolation from fresh and cryo-preserved clotted human blood useful in clinical molecular testing. Clin Chem 1998; 44: 1748-1750.
    • (1998) Clin Chem , vol.44 , pp. 1748-1750
    • Salazar, L.A.1    Hirata, M.H.2    Cavalli, S.A.3    Machado, M.O.4    Hirata, R.D.5
  • 22
    • 0034919706 scopus 로고    scopus 로고
    • Hemochromatosis mutations C282Y and H63D in 'cis' phase
    • Best LG, Harris PE, Spriggs EL. Hemochromatosis mutations C282Y and H63D in 'cis' phase. Clin Genet 2001; 60: 68-72.
    • (2001) Clin Genet , vol.60 , pp. 68-72
    • Best, L.G.1    Harris, P.E.2    Spriggs, E.L.3
  • 23
    • 0035353167 scopus 로고    scopus 로고
    • New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    • Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001; 97: 2555-2560.
    • (2001) Blood , vol.97 , pp. 2555-2560
    • Roetto, A.1    Totaro, A.2    Piperno, A.3    Piga, A.4    Longo, F.5    Garozzo, G.6
  • 24
    • 41949096574 scopus 로고    scopus 로고
    • Prevalence of H63D, S65C and C282Y mutations of the HFE gene in 1120 voluntary blood donors from Antioquia region of northwest Colombia
    • Avila-Gomez IC, Aristizabal-Bernal B, Jimenez-Del-Rio M, Velez-Pardo C. Prevalence of H63D, S65C and C282Y mutations of the HFE gene in 1120 voluntary blood donors from Antioquia region of northwest Colombia. Blood Cells Mol Dis 2008; 40: 449-451.
    • (2008) Blood Cells Mol Dis , vol.40 , pp. 449-451
    • Avila-Gomez, I.C.1    Aristizabal-Bernal, B.2    Jimenez-Del-Rio, M.3    Velez-Pardo, C.4
  • 25
    • 0037346258 scopus 로고    scopus 로고
    • Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry
    • Salvioni A, Mariani R, Oberkanins C, Moritz A, Mauri V, Pelucchi S, et al. Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry. Haematologica 2003; 88: 250-255.
    • (2003) Haematologica , vol.88 , pp. 250-255
    • Salvioni, A.1    Mariani, R.2    Oberkanins, C.3    Moritz, A.4    Mauri, V.5    Pelucchi, S.6
  • 26
    • 0032845794 scopus 로고    scopus 로고
    • Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: Detection of a new polymorphic mutation
    • Simonsen K, Dissing J, Rudbeck L, Schwartz M. Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: detection of a new polymorphic mutation. Ann Hum Genet 1999; 63: 193-197.
    • (1999) Ann Hum Genet , vol.63 , pp. 193-197
    • Simonsen, K.1    Dissing, J.2    Rudbeck, L.3    Schwartz, M.4
  • 27
    • 13844319437 scopus 로고    scopus 로고
    • Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands
    • Milman N, Steig T, Koefoed P, Pedersen P, Fenger K, Nielsen FC. Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands. Ann Hematol 2005; 84: 146-149.
    • (2005) Ann Hematol , vol.84 , pp. 146-149
    • Milman, N.1    Steig, T.2    Koefoed, P.3    Pedersen, P.4    Fenger, K.5    Nielsen, F.C.6
  • 28
    • 0032104661 scopus 로고    scopus 로고
    • Frequency of the C282Y mutation of hemochromatosis in five French populations
    • Mercier G, Bathelier C, Lucotte G. Frequency of the C282Y mutation of hemochromatosis in five French populations. Blood Cells Mol Dis 1998; 24: 165-166.
    • (1998) Blood Cells Mol Dis , vol.24 , pp. 165-166
    • Mercier, G.1    Bathelier, C.2    Lucotte, G.3
  • 29
    • 0034974983 scopus 로고    scopus 로고
    • Haemochromatosis gene mutations in a clustered Italian population: Evidence of high prevalence in people of Celtic ancestry
    • Pozzato G, Zorat F, Nascimben F, Gregorutti M, Comar C, Baracetti S, et al. Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. Eur J Hum Genet 2001; 9: 445-451.
    • (2001) Eur J Hum Genet , vol.9 , pp. 445-451
    • Pozzato, G.1    Zorat, F.2    Nascimben, F.3    Gregorutti, M.4    Comar, C.5    Baracetti, S.6
  • 30
    • 0344737638 scopus 로고    scopus 로고
    • Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations
    • McLaren CE, Li KT, Garner CP, Beutler E, Gordeuk VR. Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations. Blood 2003; 102: 4563-4566.
    • (2003) Blood , vol.102 , pp. 4563-4566
    • McLaren, C.E.1    Li, K.T.2    Garner, C.P.3    Beutler, E.4    Gordeuk, V.R.5
  • 36
    • 0028587946 scopus 로고
    • Genetics of haemochromatosis
    • Worwood M. Genetics of haemochromatosis. Baillieres Clin Haematol 1994; 7: 903-918.
    • (1994) Baillieres Clin Haematol , vol.7 , pp. 903-918
    • Worwood, M.1
  • 37
    • 0021690503 scopus 로고
    • Iron stores in male blood donors evaluated by serum ferritin
    • Milman N, Sondergaard M. Iron stores in male blood donors evaluated by serum ferritin. Transfusion 1984; 24: 464-468.
    • (1984) Transfusion , vol.24 , pp. 464-468
    • Milman, N.1    Sondergaard, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.